검색결과 : 25건
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| 1 |
Whole-genome sequencing of patients with rare diseases in a national health system Turro E, Astle WJ, Megy K, Graf S, Greene D, Shamardina O, Allen HL, Sanchis-Juan A, Frontini M, Thys C, Stephens J, Mapeta R, Burren OS, Downes K, Haimel M, Tuna S, Deevi SVV, Aitman TJ, Bennett DL, Calleja P, Carss K, Caulfield MJ, Chinnery PF, Dixon PH, Gale DP, James R, Koziell A, Laffan MA, Levine AP, Maher ER, Markus HS, Morales J, Morrell NW, Mumford AD, Ormondroyd E, Rankin S, Rendon A, Richardson S, Roberts I, Roy NBA, Saleem MA, Smith KGC, Stark H, Tan RYY, Themistocleous AC, Thrasher AJ, Watkins H, Webster AR, Wilkins MR, Williamson C, Whitworth J, Humphray S, Bentley DR, Kingston N, Walker N, Bradley JR, Ashford S, Penkett CJ, Freson K, Stirrups KE, Raymond FL, Ouwehand WH Nature, 583(7814), 96, 2020 |
| 2 |
Whole-genome sequencing of patients with rare diseases in a national health system Turro E, Astle WJ, Megy K, Graf S, Greene D, Shamardina O, Allen HL, Sanchis-Juan A, Frontini M, Thys C, Stephens J, Mapeta R, Burren OS, Downes K, Haimel M, Tuna S, Deevi SVV, Aitman TJ, Bennett DL, Calleja P, Carss K, Caulfield MJ, Chinnery PF, Dixon PH, Gale DP, James R, Koziell A, Laffan MA, Levine AP, Maher ER, Markus HS, Morales J, Morrell NW, Mumford AD, Ormondroyd E, Rankin S, Rendon A, Richardson S, Roberts I, Roy NBA, Saleem MA, Smith KGC, Stark H, Tan RYY, Themistocleous AC, Thrasher AJ, Watkins H, Webster AR, Wilkins MR, Williamson C, Whitworth J, Humphray S, Bentley DR, Kingston N, Walker N, Bradley JR, Ashford S, Penkett CJ, Freson K, Stirrups KE, Raymond FL, Ouwehand WH Nature, 583(7814), 96, 2020 |
| 3 |
Microwave Transparent Catalytic Falling-Film Microreactor for Automated Operation Krtschil U, Lob P, Schutt C, Zapf R, James R, Bonrath W, Medlock J Chemical Engineering & Technology, 42(2), 407, 2019 |
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Germline selection shapes human mitochondrial DNA diversity Wei W, Tuna S, Keogh MJ, Smith KR, Aitman TJ, Beales PL, Bennett DL, Gale DP, Bitner-Glindzicz MAK, Black GC, Brennan P, Elliott P, Flinter FA, Floto RA, Houlden H, Irving M, Koziell A, Maher ER, Markus HS, Morrell NW, Newman WG, Roberts I, Sayer JA, Smith KGC, Taylor JC, Watkins H, Webster AR, Wilkie AOM, Williamson C, Attwood A, Brown M, Brod NC, Crisp-Hihn A, Davis J, Deevi SVV, Dewhurst EF, Edwards K, Erwood M, Fox J, Frary AJ, Hu FY, Jolley J, Kingston N, Linger R, Mapeta R, Martin J, Meacham S, Papadia S, Rayner-Matthews PJ, Samarghitean C, Shamardina O, Simeoni I, Staines S, Staples E, Stark H, Stephens J, Titterton C, Tuna S, von Ziegenweidt J, Watt C, Whitehorn D, Wood Y, Yates K, Yu P, James R, Ashford S, Penkett CJ, Stirrups KE, Bariana T, Lentaigne C, Sivapalaratnam S, Westbury SK, Allsup DJ, Bakchoul T, Biss T, Boyce S, Collins J, Collins PW, Curry NS, Downes K, Dutt T, Erber WN, Evans G, Everington T, Favier R, Gomez K, Greene D, Gresele P, Hart D, Kazmi R, Kelly AM, Lambert M, Madan B, Mangles S, Mathias M, Millar C, Obaji S, Peerlinck K, Roughley C, Schulman S, Scully M, Shapiro SE, Sibson K, Simeoni I, Sims MC, Tait RC, Talks K, Thys C, Toh CH, Geet C, Westwood JP, Papadia S, Mumford AD, Ouwehand WH, Freson K, Laffan MA, Tan RYY, Harkness K, Mehta S, Muir KW, Hassan A, Traylor M, Drazyk AM, Markus HS, Parry D, Ahmed M, Kazkaz H, Vandersteen AM, Aitman TJ, Ormondroyd E, Thomson K, Dent T, Brennan P, Buchan RJ, Bueser T, Carr-White G, Cook S, Daniels MJ, Harper AR, Ware JS, Watkins H, Dixon PH, Chambers J, Cheng F, Estiu MC, Hague WM, Marschall HU, Vazquez-Lopez M, Williamson C, Arno G, Dewhurst EF, Erwood M, French CE, Michaelides M, Moore AT, Sanchis-Juan A, Carss K, Webster AR, Raymond FL, Chinnery PF, Griffiths P, Horvath R, Hudson G, Jurkute N, Pyle A, Wei W, Yu-Wai-Man P, Whitworth J, Adlard J, Ahmed M, Armstrong R, Brewer C, Casey R, Cole TRP, Evans DG, Greenhalgh L, Hanson HL, Hoffman J, Izatt L, Kumar A, Lalloo F, Ong KR, Park SM, Searle C, Side L, Snape K, Woodward E, Tischkowitz M, Maher ER, Carss K, Dewhurst EF, Erwood M, French CE, Grozeva D, Kurian MA, Themistocleous AC, Gosal D, Horvath R, Marshall A, Matthews E, McCarthy MI, Renton T, Rice ASC, Vale T, Walker SM, Woods CG, Bennett DL, Thaventhiran JE, Allen HL, Savic S, Alachkar H, Antrobus R, Baxendale HE, Browning MJ, Buckland MS, Cooper N, Edgar JDM, Egner W, Gilmour KC, Goddard S, Gordins P, Grigoriadou S, Hackett S, Hague R, Hayman G, Herwadkar A, Huissoon AP, Jolles S, Kelleher P, Kumararatne D, Longhurst H, Lorenzo LE, Lyons PA, Maimaris J, Noorani S, Richter A, Samarghitean C, Sargur RB, Sewell WAC, Simeoni I, Staples E, Thomas D, Thomas MJ, Worth A, Yong PFK, Kuijpers TW, Thrasher AJ, Smith KGC, Levine AP, Sadeghi-Alavijeh O, Wong EKS, Cook HT, Chan MMY, Hall M, Harris C, McAlinden P, Marchbank KJ, Marks S, Maxwell H, Mozere M, Wessels J, Johnson SA, Gale DP, Bleda M, Hadinnapola C, Haimel M, Swietlik E, Bogaard H, Church C, Coghlan G, Condliffe R, Corris P, Danesino C, Eyries M, Gall H, Ghofrani HA, Gibbs JSR, Girerd B, Holden S, Houweling A, Howard LS, Humbert M, Kiely DG, Kovacs G, Lawrie A, Ross RVM, Martin J, Moledina S, Montani D, Newnham M, Olschewski A, Olschewski H, Peacock A, Pepke-Zaba J, Scelsi L, Seeger W, Soubrier F, Suntharalingam J, Toshner M, Treacy C, Trembath R, Noordegraaf AV, Waisfisz Q, Wharton J, Wilkins MR, Wort SJ, Yates K, Graf S, Morrell NW, Louka E, Roy NB, Rao A, Ancliff P, Babbs C, Layton DM, Mead AJ, O'Sullivan J, Okoli S, Roberts I, Saleem M, Bierzynska A, Diz CB, Colby E, Ekani MN, Satchell S, Koziell A, Fowler T, Rendon A, Scott R, Smedley D, Smith KR, Thomas E, Caulfield M, Abbs S, Burrows N, Chitre M, Dewhurst EF, Floto RA, Gattens M, Gurnell M, Holden S, Kelsall W, Mehta S, Poole KES, Ross-Russell R, Spasic-Boskovic O, Twiss P, Wagner A, Banka S, Black GC, Clayton-Smith J, Douzgou S, Newman WG, Abulhoul L, Aurora P, Bockenhauer D, Cleary M, Dattani M, Ganesan V, Pilkington C, Rahman S, Shah N, Wedderburn L, Bitner-Glindzicz MAK, Bueser T, Compton CJ, Deshpande C, Fassihi H, Haque E, Izatt L, Josifova D, Mohammed SN, Robert L, Rose SJ, Ruddy DM, Sarkany RN, Sayer G, Shaw AC, Irving M, Flinter FA, Campbell C, Gibson K, Koelling N, Lester T, Nemeth AH, Palles C, Patel S, Roy NB, Sen A, Taylor J, Tomlinson IP, Taylor JC, Wilkie AOM, Arno G, Malka S, Michaelides M, Moore AT, Webster AR, Brennan P, Browning AC, Burn J, Chinnery PF, De Soyza A, Graham J, Horvath R, Pearce S, Quinton R, Schaefer AM, Wilson BT, Wright M, Yu-Wai-Man P, Sayer JA, Simpson M, Syrris P, Elliott P, Houlden H, Beales PL, Ashford S, Penkett CJ, Stirrups KE, Rendon A, Ouwehand WH, Bradley JR, Raymond FL, Caulfield M, Turro E, Chinnery PF Science, 364(6442), 749, 2019 |
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A gravitational-wave standard siren measurement of the Hubble constant Abbott BP, Abbott R, Abbott TD, Acernese F, Ackley K, Adams C, Adams T, Addesso P, Adhikari RX, Adya VB, Affeldt C, Afrough M, Agarwal B, Agathos M, Agatsuma K, Aggarwal N, Aguiar OD, Aiello L, Ain A, Ajith P, Allen B, Allen G, Allocca A, Altin PA, Amato A, Ananyeva A, Anderson SB, Anderson WG, Angelova SV, Antier S, Appert S, Arai K, Araya MC, Areeda JS, Arnaud N, Arun KG, Ascenzi S, Ashton G, Ast M, Aston SM, Astone P, Atallah DV, Aufmuth P, Aulbert C, AultO'Neal K, Austin C, Avila-Alvarez A, Babak S, Bacon P, Bader MKM, Bae S, Baker PT, Baldaccini F, Ballardin G, Ballmer SW, Banagiri S, Barayoga JC, Barclay SE, Barish BC, Barker D, Barkett K, Barone F, Barr B, Barsotti L, Barsuglia M, Barta D, Bartlett J, Bartos I, Bassiri R, Basti N, Batch JC, Bawaj M, Bayley JC, Bazzan M, Becsy B, Beer C, Bejger M, Belahcene I, Bell AS, Berger BK, Bergmann G, Bero JJ, Berry CPL, Bersanetti D, Bertolini A, Betzwieser J, Bhagwat S, Bhandare R, Bilenko IA, Billingsley G, Billman CR, Birch J, Birney R, Birnholtz O, Biscans S, Biscoveanu S, Bisht A, Bitossi M, Biwer C, Bizouard A, Blackburn JK, Blackman J, Blair CD, Blair DG, Blair RM, Bloemen S, Bock O, Bode N, Boer M, Bogaert G, Bohe A, Bondu F, Bonilla E, Bonnand R, Boom BA, Bork R, Boschi V, Bose S, Bossie K, Bouffanais Y, Bozzi A, Bradaschia C, Brady PR, Branchesi M, Brau JE, Briant T, Brillet A, Brinkmann M, Brisson V, Brockill R, Broida JE, Brooks NF, Brown DA, Brown DD, Brunett S, Buchanan CC, Buikema A, Bulik H, Bulten HJ, Buonanno A, Buskulic D, Buy C, Byer RL, Cabero M, Cadonati L, Cagnoli G, Cahillane C, Bustillo JC, Callister TA, Calloni E, Camp JB, Canepa M, Canizares P, Cannon KC, Cao H, Cao J, Capano CD, Capocasa E, Carbognani F, Caride S, Carney MF, Diaz JC, Casentini C, Caudill S, Cavaglia M, Cavalier F, Cavalieri R, Cella G, Cepeda CB, Cerda-Duran P, Cerretani G, Cesarini E, Chamberlin SJ, Chan M, Chao S, Charlton P, Chase E, Chassande-Mottin E, Chatterjee D, Chatziioannou K, Cheeseboro BD, Chen HY, Chen X, Chen Y, Cheng HP, Chia H, Chincarini N, Chiummo A, Chmiel T, Cho HS, Cho M, Chow JH, Christensen N, Chu Q, Chua AJK, Chua S, Chung AKW, Chung S, Ciani G, Ciolfi R, Cirelli CE, Cirone N, Clara F, Clark JA, Clearwater P, Cleva F, Cocchieri C, Coccia E, Cohadon PF, Cohen D, Colla A, Collette CG, Cominsky LR, Constancio M, Conti L, Cooper SJ, Corban P, Corbitt TR, Cordero-Carrion I, Corley KR, Cornish N, Corsi A, Cortese S, Costa CA, Coughlin MW, Coughlin SB, Coulon JP, Countryman ST, Couvares P, Covas PB, Cowan EE, Coward DM, Cowart MJ, Coyne DC, Coyne R, Creighton JDE, Creighton TD, Cripe J, Crowder SG, Cullen TJ, Cumming A, Cunningham L, Cuoco E, Dal Canton T, Dalya G, Danilishin SL, D'Antonio S, Danzmann K, Dasgupta A, Costa CFDS, Datrier LEH, Dattilo V, Dave I, Davier M, Davis EJ, Daw EJ, Day B, De S, DeBra D, Degallaix J, De Laurentis M, Deleglise S, Del Pozzo W, Demos N, Denker T, Dent T, De Pietri R, Dergachev V, De Rosa R, DeRosa RT, De Rossi C, DeSalvo R, de Verona O, Devenson J, Dhurancihar S, Diaz MC, Di Fiore L, Di Giovanni M, Di Girolamo T, Di Lieto A, Di Pace S, Di Palma I, Di Renzo F, Doctor Z, Dolique V, Donovan F, Dooley KL, Doravari S, Dorrington I, Douglas R, Alvarez MD, Downes TP, Drago M, Dreissigacker C, Driggers JC, Du Z, Ducrot M, Dupej P, Dwyer SE, Edo TB, Edwards MC, Effler N, Eggenstein HB, Ehrens P, Eichholz J, Eikenberry SS, Eisenstein RA, Essick RC, Estevez D, Etienne ZB, Etzel T, Evans M, Evans TM, Factourovich M, Fafone V, Fair H, Fairhurst S, Fan X, Farinon S, Farr B, Farr WM, Fauchon-Jones EJ, Favata M, Fays M, Fee C, Fehrmann H, Feicht J, Fejer MM, Fernandez-Galiana A, Ferrante I, Ferreira EC, Ferrini F, Fidecaro F, Finstad D, Fiori I, Fiorucci D, Fishbach M, Fisher RP, Fitz-Axen M, Flaminio R, Fletcher M, Fong H, Font JA, Forsyth PWF, Forsyth SS, Fournier JD, Frasca S, Frasconi E, Frei Z, Freise A, Frey R, Frey V, Fries EM, Fritschel P, Frolov VV, Fulda P, Fyffe M, Gabbard H, Gadre BU, Gaebel SM, Gair JR, Gammaitoni L, Ganija MR, Gaonkar SG, Garcia-Quiros C, Garufi F, Gateley B, Gaudio S, Gaur G, Gayathril V, Gehrels N, Gemme G, Genin E, Gennai A, George D, George J, Gergely L, Germain V, Ghonge S, Ghosh A, Ghosh A, Ghosh S, Giaime JA, Giardina KD, Giazotto A, Gill K, Glover L, Goetz E, Goetz R, Gomes S, Goncharov B, Gonzalez G, Castro JMG, Gopakumar A, Gorodetsky ML, Gossan SE, Gosselin M, Gouaty R, Grado A, Graef C, Granata M, Grant A, Gras S, Gray C, Greco G, Green AC, Gretarsson EM, Groot P, Grote H, Grunewald S, Gruning P, Guidi GM, Guo X, Gupta A, Gupta MK, Gushwa KE, Gustafson EK, Gustafson R, Halim O, Hall BR, Hall ED, Hamilton EZ, Hammond G, Haney M, Hanke MM, Hanks J, Hanna C, Hannam MD, Hannuksela OA, Hanson J, Hardwick I, Harms J, Harry GM, Harry IW, Hart MJ, Hester CJ, Haughian K, Healy J, Heidmann N, Heintze MC, Heitmann H, Hello P, Hemming G, Hendry M, Heng IS, Hennig J, Heptonstall AW, Heurs M, Hild S, Hinderer T, Hoak D, Hofman 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